Source:http://linkedlifedata.com/resource/pubmed/id/20597905
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2010-7-5
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pubmed:abstractText |
Genetic variation of the CYP2D6 gene has been associated with altered drug metabolism; however, limited studies have investigated CYP2D6 sequence diversity in African populations. We devised a CYP2D6 genotyping strategy to analyse the South African Xhosa population and genotype a Xhosa schizophrenia cohort, as CYP2D6 metabolises many antipsychotics and antidepressants. The entire CYP2D6 gene locus was sequenced in 15 Xhosa control individuals and the data generated were used to design a comprehensive genotyping strategy. Over 25 CYP2D6 alleles were genotyped in Xhosa controls and Xhosa schizophrenia patients using long-range PCR, DNA sequencing and single nucleotide primer extension analysis. Bioinformatic algorithms were used to predict the functional consequences of relevant mutations and samples were assigned CYP2D6 activity scores. A unique allele distribution was revealed and two rare novel alleles, CYP2D6*73 and CYP2D6*74, were identified. No significant differences in allele frequencies were detected between Xhosa controls and schizophrenia patients. This study provides i) comprehensive data on a poorly characterised population, ii) a valuable CYP2D6 genotyping strategy and iii) due to their unique genetic profile, provides the basis for pharmacogenetic intervention for Xhosa individuals.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1469-1809
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
74
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
340-50
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pubmed:meshHeading |
pubmed-meshheading:20597905-African Continental Ancestry Group,
pubmed-meshheading:20597905-Cytochrome P-450 CYP2D6,
pubmed-meshheading:20597905-Genetic Variation,
pubmed-meshheading:20597905-Genotype,
pubmed-meshheading:20597905-Humans,
pubmed-meshheading:20597905-Pharmacogenetics,
pubmed-meshheading:20597905-Polymorphism, Genetic,
pubmed-meshheading:20597905-Schizophrenia,
pubmed-meshheading:20597905-South Africa
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pubmed:year |
2010
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pubmed:articleTitle |
Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population.
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pubmed:affiliation |
Department of Genetics, Stellenbosch University, Private bag X1, Matieland 7602, South Africa.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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